Ellis Van Creveld Syndrome - Nursing Science

Relevant Publications

High-tech care in the Amish: Chronic respiratory failure in Ellis-van Creveld syndrome.

Issue Release: 2024

Mexican patient with Ellis-van Creveld syndrome and cleft palate: Importance of functional hemizygosity and phenotype expansion.

Issue Release: 2024

Weyers Acrofacial Dysostosis: A Case Report.

Issue Release: 2024

Ellis-van Creveld syndrome: a case report.

Issue Release: 2024

Variant characterisation and clinical profile in a large cohort of patients with Ellis-van Creveld syndrome and a family with Weyers acrofacial dysostosis.

Issue Release: 2024

A Case Report on Ellis-van Creveld Syndrome: Clinical, Embryological, Anesthetic, and Surgical Implications.

Issue Release: 2024

Correction of lower limb deformity in an adult patient with Ellis-van Creveld syndrome: a rare case report.

Issue Release: 2024

Identification of two novel genetic variants for Ellis-van Creveld syndrome from a Chinese family through whole exome sequencing.

Issue Release: 2024

A Rare Presentation of Postaxial Polydactyly in a 2-Year-Old Female with Ellis-van Creveld Syndrome.

Issue Release: 2023

Clinical variability in DYNC2H1-related skeletal ciliopathies includes Ellis-van Creveld syndrome.

Issue Release: 2023

Surgical Outcome of Complex Knee Deformity Correction in a Girl With Ellis-van Creveld Syndrome: A Report of a Rare Case.

Issue Release: 2023

Identification of Compound Heterozygous Gene Variants in Two Mexican Families with Ellis-van Creveld Syndrome.

Issue Release: 2023

A homozygous EVC mutation in a prenatal fetus with Ellis-van Creveld syndrome.

Issue Release: 2023

Non-syndromic generalised hypotaurodontism in a case of Stage III Grade C periodontitis.

Issue Release: 2023

Oligodontia in the Clinical Spectrum of Syndromes: A Systematic Review.

Issue Release: 2023

Peripheral odontogenic fibroma in a child with Ellis-van Creveld syndrome: Case report.

Issue Release: 2023

Clinical features and genetic analysis of a case series of skeletal ciliopathies in a prenatal setting.

Issue Release: 2023

EVC-EVC2 complex stability and ciliary targeting are regulated by modification with ubiquitin and SUMO.

Issue Release: 2023

Prenatal whole exome sequencing identified two rare compound heterozygous variants in EVC2 causing Ellis-van Creveld syndrome.

Issue Release: 2023

Recruitment of transcription factor ETS1 to activated accessible regions promotes the transcriptional program of cilia genes.

Issue Release: 2023

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